Canonical Allele Identifier: CA357495848
Gene: ADH1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307840T>C , CM000666.2:g.99307840T>C GRCh38
NC_000004.11:g.100228997T>C , CM000666.1:g.100228997T>C GRCh37
NC_000004.10:g.100448020T>C NCBI36
NG_011435.1:g.18576A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.1128A>G MANE Select ENSP00000306606.8:p.Ter376Trp
ENST00000305046.12:c.1128A>G ENSP00000306606.8:p.Ter376Trp
ENST00000506651.5:c.1008A>G ENSP00000425998.2:p.Ter336Trp
ENST00000515694.4:n.3223A>G
ENST00000625860.2:c.1008A>G ENSP00000486614.1:p.Ter336Trp
NM_000668.5:c.1128A>G NP_000659.2:p.Ter376Trp
NM_001286650.1:c.1008A>G NP_001273579.1:p.Ter336Trp
NM_000668.6:c.1128A>G MANE Select NP_000659.2:p.Ter376Trp
NM_001286650.2:c.1008A>G NP_001273579.1:p.Ter336Trp